Advances in genomic technology now make it possible to sequence the entire human genome at an affordable cost. As a consequence, next-generation sequencing is being used as a tool to understand the genetic basis of rheumatic diseases. The whole genome is being sequenced to search for rare variants that contribute to disease risk. Regions of the T-cell receptor and immunoglobulin locus are being sequenced to search for somatic rearrangements that are specific to patients. Ribonucleic acid is being sequenced from affected tissues as a novel way to identify unique patterns of expression.
Upon completion of this session, participants should be able to:
- define the role of next-generation sequencing in scientific discovery
- recognize the difference between common and rare variants
- describe the role of T-cell receptor and immunoglobulin locus in rheumatoid arthritis pathogenesis
|Moderators:||Robert M. Plenge, MD, PhD, Brigham and Women's Hospital and Paul L. Klarenbeek, MD, MSc, Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital|
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